Mutation Details for c.3803A>G
|
|
cDNA Name
|
c.3803A>G
|
|
Protein Name
|
p.Gln1268Arg
|
|
Exon or Intron
|
exon 23
|
|
Legacy Exon or Intron
|
exon 20
|
|
|
Q1268R
|
|
Other Details
|
The mutation was detected by DHPLC analysis and characterised by direct sequencing. We have seen it only once, in over 500 control chromosomes from Italian population.
|
|
Contributors
|
Picci L., Cameran M., Marangon O., Marzenta D.
2006-12-20
|
|
Institute
|
Lab. Genetica Molecolare Dip Pediatria, Padova, Italy
|
|
Submitted Phenotype Details
|
The change was found in the asymptomatic wife, from Northeast Italy, of a CF carrier.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
